HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154965990C>T , CM000685.2:g.154965990C>T | GRCh38 |
NC_000023.10:g.154194265C>T , CM000685.1:g.154194265C>T | GRCh37 |
NC_000023.9:g.153847459C>T | NCBI36 |
NG_011403.1:g.61734G>A | |
NG_011403.2:g.61734G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1423G>A MANE Select | ENSP00000353393.4:p.Glu475Lys | |
ENST00000647125.1:c.*1299G>A | ENSP00000496062.1:n.*1299G>A | |
ENST00000360256.8:c.1423G>A | ENSP00000353393.4:p.Glu475Lys | |
ENST00000483822.2:n.243G>A | ||
NM_000132.3:c.1423G>A | NP_000123.1:p.Glu475Lys | |
XM_011531126.1:c.1318G>A | XP_011529428.1:p.Glu440Lys | |
NM_000132.4:c.1423G>A MANE Select | NP_000123.1:p.Glu475Lys |